2026
SHOC2 Is a Novel Cause of Central Conducting Lymphatic Anomaly.
Ding JC, Sempowski BA, Zerbib L, Adamson GT, Insinna C, Marshall CM, Sinha SP, Breckenridge AJ, Amedume RR, Johnson JTE, Krikorian GL, Dykzeul N, Floyd BJ, Stevenson DA, Sheppard SE.
Am J Med Genet A. 2026 Jul 15. doi: 10.1002/ajmg.a.70224. Online ahead of print.
PMID: 42454412
NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient.
Yang G, Ren H, Wang J, Chen W, Li X, Chen S, Chen H, Zhao L, Fan W, Xiao S.
Hum Mol Genet. 2026;35(16):ddag070. doi: 10.1093/hmg/ddag070.
PMID: 42544506
Comprehensive Molecular and Clinicopathological Profiling of Lymphatic Malformations.
Hirose K, Hori Y, Maruyama K, Ozeki M, Motooka D, Matsui T, Kohara M, Toyosawa S, Morii E.
Lab Invest. 2026 Sep 22:106168. doi: 10.1016/j.labinv.2026.106168. Online ahead of print.
PMID: 42772373
*Note – this publication includes spatial transcriptomic findings.
RAS-PI3Kα signaling regulates KrasG12D-induced lymphangiogenesis in complex lymphatic anomalies.
Fernandes LM, Tresemer J, Vallejo A, Yao A, Scallan JP, Dellinger MT.
Dis Model Mech. 2026;19(8):dmm052932. doi: 10.1242/dmm.052932.
PMID: 42528282
RAS Inhibitor RMC-7977 Blocks Vascular Overgrowth of NRASQ61R Mutant Endothelial Cells.
Alharbi S, Merkle S, Pastura P, McDaniel CG, Zaky GS, Waters AM, Le Cras TD.
J Cell Mol Med. 2026 Aug;30(15):e71316. doi: 10.1111/jcmm.71316.
PMID: 42576614
Sirolimus outperforms alpelisib in models of NRASQ61R-driven vascular overgrowth.
Merkle S, Alharbi S, Pastura P, McDaniel CG, Le Cras TD.
Blood Vessel Thromb Hemost. 2026;3(3):100192. doi: 10.1016/j.bvth.2026.100192.
PMID: 42621428
Resolution of Refractory Chylous Effusions With Targeted MEK Inhibition in NRAS Q61R-Driven Kaposiform Lymphangiomatosis: A Case Report.
Brown G, McNab S, Keogh S, Massie J, Eastaugh L, Pathmanathan L, Bertinetti M, Sullivan M, Orme L, Cloney T, Brown NJ, Tan TY, Quin R, Pertile M, Moon A, Bekhit E, Penington T.
Case Rep Pediatr. 2026;2026:7037459. doi: 10.1155/crpe/7037459. Epub 2026 Aug 24.
PMID: 42639465
Therapeutic Efficacy of Sirolimus in Skeletal Manifestations of Gorham-Stout Disease in Adults: A Systematic Review.
Mierzejewski M, Olizarowicz S, Kania-Bonicka Z, Majewski M, Szczepanska P.
Cureus. 2026 Jun 12;18(6):e110745. doi: 10.7759/cureus.110745.
PMID: 42438615
Untargeted metabolomic profiling reveals mTORC1-dependent regulation of amino acid utilization in lymphatic endothelial cells.
Zhu J, Darko F, Han F, Simeroth S, Li L, Gu H, Yu P.
Vascul Pharmacol. 2026 Jun;163:107609. doi: 10.1016/j.vph.2026.107609. Epub 2026 Apr 1.
PMID: 41932558
Akt signaling regulates the activities of lymphatic malformation endothelial cells through PKM2 nuclear translocation.
Wang P, Chen S, Wang R, Tong G, Yang S, Zhong W, Cai Y.
Biochim Biophys Acta Mol Basis Dis. 2027;1873(1):168462. doi: 10.1016/j.bbadis.2026.168462. Epub 2026 Sep 12.
PMID: 42731735
NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis.
McDaniel CG, Pastura P, Scallan JP, Le Cras TD.
Pediatr Blood Cancer. 2026 Jul;73(7):e70339. doi: 10.1002/1545-5017.70339. Epub 2026 Apr 16
Constitutive, Mosaic Expression of TIE2 p.L914F During Mouse Development Causes Venous Malformation.
Bischoff LJ, Sherpa C, Schrenk S, Boscolo E.
FASEB J. 2026 May 15;40(9):e71862. doi: 10.1096/fj.202600444R.
PMID: 42059767
Polymeric rapamycin nanoparticles encapsulating ponatinib cause regression of venous malformations in mice.
Tang W, Li Y, Boscolo E, Kohane DS, Cullion K.
Sci Transl Med. 2026 May 6;18(848):eaeb7597. doi: 10.1126/scitranslmed.aeb7597. Epub 2026 May 6.
Navigating fertility and family planning decisions: Experiences of women with vascular anomalies.
Kerr AM, Chetty K, D P, Sisk BA.
Patient Educ Couns. 2026 Aug;149:109586. doi: 10.1016/j.pec.2026.109586. Epub 2026 Mar 17.
PMID: 41880849
The VAccess program: codesign and development of a web-based tool to address barriers to care for vascular anomalies.
Sisk BA, Milam S, Bereitschaft C, Baker L, Oh IY, Cohen-Cutler S, Kerr AM.
Blood Vessel Thromb Hemost. 2026 Mar 30;3(2):100162. doi: 10.1016/j.bvth.2026.100162. eCollection 2026 May.
PMID: 42093918
VA-Comm: Developing and Piloting a Novel Communication Tool for Complex Lymphatic Anomalies and Lymphatic Malformations.
Sisk BA, Kepper MM, Bereitschaft C, Milam S, Chen S, Nakano TA, Wu MD, Borst AJ, Kerr AM.
Pediatr Blood Cancer. 2026 Feb;73(2):e32149. doi: 10.1002/pbc.32149. Epub 2025 Nov 3.
PMID: 41185141
Trp53 loss drives the neoplastic transformation of Pik3caH1047R-induced vascular malformation in a mouse model.
Tang M, Sallavanti J, Lanza M, Covington D, Li W.
PLoS One. 2026 May 4;21(5):e0348285. doi: 10.1371/journal.pone.0348285. eCollection 2026.
PMID: 42081505
Sirolimus Therapy and Dyslipidemia in Neonates and Infants: A Retrospective Cohort and Pharmacovigilance Analysis.
Taniguchi A, Chrétien B, Maeda T, Ueda K, Miura R, Tanaka R, Suzuki T, Muramatsu Y, Sato Y, Nishida K.
Paediatr Drugs. 2026 May 30. doi: 10.1007/s40272-026-00754-5. Online ahead of print.
PMID: 42217144
Trametinib Decreased Intracerebral Hemorrhages and Endothelial-to-Mesenchymal Transition in KRAS(G12V)-Induced Brain Arteriovenous Malformations in Mice.
Myint O, Freeman BH, Jeong J, Park H, Wilfur SM, Huang S, Park JE, Körbelin J, Aronowski J, Park ES, Chen PR, Kim E.
Stroke. 2026 Mar;57(3):779-793. doi: 10.1161/STROKEAHA.125.052418. Epub 2025 Dec 18.
PMID: 41410028
KRAS-dependent glycolytic reprogramming of endothelial cells in sporadic arteriovenous malformations.
Wu R, Khosraviani N, Mansur A, Boudreau E, Largoza GE, Park S, Gustafson D, Raju S, Ching C, Klip A, Wälchli T, Howe KL, Radovanovic I, Wythe JD, Fish JE.
EMBO Mol Med. 2026 Mar;18(3):1091-1126. doi: 10.1038/s44321-026-00383-y. Epub 2026 Feb 18.
PMID: 41708990
A phase 2 study of the MEK1/2 inhibitor luvometinib in patients with extracranial arteriovenous malformations.
Hua C, Wu Z, Wang X, Liu H, Li B, Zheng Y, Lin X.
Clin Cancer Res. 2026 May 13. doi: 10.1158/1078-0432.CCR-26-0149. Online ahead of print.
PMID: 42126547
Endothelial oncogenic KRAS mutation drives the dynamics of microglia and macrophages in brain arteriovenous malformation.
Park H, Park JE, Freeman BH, Yang BSK, Ting SM, Suh AK, Savarraj JP, Huang S, Körbelin J, Choi HA, Marrelli SP, Aronowski J, Chen PR, Kim E, Park ES.
JCI Insight. 2026 Feb 5;11(6):e195638. doi: 10.1172/jci.insight.195638. eCollection 2026 Mar 23.
PMID: 41642659
Gorham-Stout disease with thoracic involvement: pathogenic mechanisms, respiratory complications, and multimodal therapies
Li N, Le X, Xu D, Chen T, Zeng Y, Wang J.
Orphanet J Rare Dis. 2026 Jan 30;21(1):76.
Constitutive, mosaic expression of TIE2 p.L914F during mouse development causes formation of venous malformation
Bischoff LJ, Sherpa C, Schrenk S, Boscolo E.
bioRxiv [Preprint]. 2026 Jan 28:2026.01.27.702061.
Advances in genetics, signaling, and modeling of venous malformations
Sagar K, Boscolo E.
Front Cardiovasc Med. 2026 Feb 6;13:1770126.
Lymphatic Malformations With Activating KRAS Mutations Impair Lymphatic Valve Development Through Matrix Metalloproteinases
Mastrogiacomo DM, Price A, Fu Y, Banerjee R, Knauer LA, Li K, Yang Y, Davis GE, Dellinger MT, Scallan JP.
Arterioscler Thromb Vasc Biol. 2026 Mar 26. doi: 10.1161/ATVBAHA.126.324257.
MEK Inhibition Reduces Vascular Malformations and Gene Dysregulation in NRASQ61R Human Endothelial Cells
Alharbi S, Wagner A, Merkle S, Pastura P, McDaniel CG, Fox D, Xu Y, Cras TDL.
Pediatr Blood Cancer. 2026 Mar;73(3):e70002.
CT Lymphangiography and Nonenhanced Magnetic Resonance Lymphangiography of Central Lymphatic Abnormalities in Patients with Central Conducting Lymphatic Anomalies
Zhang Y, Zhang Y, Li X, Liu M, Zhang M, Sun X, Wang R.
Lymphat Res Biol. 2026 Feb;24(1):57-64.
High depth targeted next-generation sequencing in vascular malformations
Pakhathirathien P, Wongkittichote P, Wittayakornrerk S, Treesit T, Feinggumloon S, Pichipichatkul K, Bua-Ngam C, Sarovath A, Thanachatchairattana P, Dumrongwongsiri S, Bowling KM, Corliss MM, Cao Y, Tim-Aroon T, Khongkraparn A, Noojaroen S, Wattanasirichaigoon D.
Hum Mol Genet. 2026 Feb 8;35(1):ddaf169.
Current and emerging pharmacotherapies for treating vascular malformations
Seront E, Van Damme A, Coulie J, Boon LM, Vikkula M.
Expert Rev Clin Pharmacol. 2026 Mar 17:1-14.
